A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558701



Internal ID16346110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41644369..41711607hg38UCSC Ensembl
Innerchr12:42038171..42105409hg19UCSC Ensembl
Innerchr12:40324438..40391676hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3867239
hg1967239
hg1867239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv794060
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558701
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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